Canonical Allele Identifier: CA915945864

Gene: CACNB2 NSUN6

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18536094T>C , CM000672.2:g.18536094T>C	GRCh38
NC_000010.10:g.18825023T>C , CM000672.1:g.18825023T>C	GRCh37
NC_000010.9:g.18865029T>C	NCBI36
NG_016195.1:g.400418T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1063-7T>C (CACNB2)	ENSP00000366532.4:n.1063-7T>C
ENST00000377319.9:c.928-7T>C (CACNB2)	ENSP00000366536.3:n.928-7T>C
ENST00000645287.2:c.1051-7T>C (CACNB2)	ENSP00000496203.1:n.1051-7T>C
ENST00000282343.13:c.1123-7T>C (CACNB2)	ENSP00000282343.8:n.1123-7T>C
ENST00000324631.13:c.1207-7T>C (CACNB2) MANE Select	ENSP00000320025.8:n.1207-7T>C
ENST00000377315.5:c.1063-7T>C (CACNB2)	ENSP00000366532.4:n.1063-7T>C
ENST00000377319.8:c.928-7T>C (CACNB2)	ENSP00000366536.3:n.928-7T>C
ENST00000377329.10:c.1045-7T>C (CACNB2) MANE Plus Clinical	ENSP00000366546.4:n.1045-7T>C
ENST00000377331.8:c.927+1867T>C (CACNB2)	ENSP00000366548.4:n.927+1867T>C
ENST00000643096.2:c.1009-7T>C (CACNB2)	ENSP00000494209.2:n.1009-7T>C
ENST00000645287.1:c.1051-7T>C (CACNB2)	ENSP00000496203.1:n.1051-7T>C
ENST00000647168.2:c.*348-7T>C (CACNB2)	ENSP00000495854.2:n.*348-7T>C
ENST00000650685.1:c.949-7T>C (CACNB2)	ENSP00000498460.1:n.949-7T>C
ENST00000651330.1:c.*481-7T>C (CACNB2)	ENSP00000498457.1:n.*481-7T>C
ENST00000651468.1:c.764-7T>C (CACNB2)	ENSP00000498352.1:n.764-7T>C
ENST00000651928.1:c.*446-7T>C (CACNB2)	ENSP00000499177.1:n.*446-7T>C
ENST00000652391.1:c.1027-7T>C (CACNB2)	ENSP00000498938.1:n.1027-7T>C
ENST00000652478.1:c.*307-7T>C (CACNB2)	ENSP00000498812.1:n.*307-7T>C
ENST00000282343.12:c.1123-7T>C (CACNB2)	ENSP00000282343.8:n.1123-7T>C
ENST00000324631.11:c.1207-7T>C (CACNB2)	ENSP00000320025.7:n.1207-7T>C
ENST00000352115.10:c.1135-7T>C (CACNB2)	ENSP00000344474.6:n.1135-7T>C
ENST00000377315.4:c.1063-7T>C (CACNB2)	ENSP00000366532.4:n.1063-7T>C
ENST00000377319.7:c.928-7T>C (CACNB2)	ENSP00000366536.3:n.928-7T>C
ENST00000377328.5:c.457-7T>C (CACNB2)	ENSP00000366545.1:n.457-7T>C
ENST00000377329.8:c.1045-7T>C (CACNB2)	ENSP00000366546.4:n.1045-7T>C
ENST00000377331.6:c.1051-7T>C (CACNB2)	ENSP00000366548.2:n.1051-7T>C
ENST00000396576.6:c.1042-7T>C (CACNB2)	ENSP00000379821.2:n.1042-7T>C
ENST00000612134.4:c.911-7T>C (CACNB2)	ENSP00000480563.1:n.911-7T>C
ENST00000612743.1:c.35-3170T>C (CACNB2)	ENSP00000478676.1:n.35-3170T>C
ENST00000615785.4:c.292-7T>C (CACNB2)	ENSP00000480260.1:n.292-7T>C
ENST00000617363.4:c.970-7T>C (CACNB2)	ENSP00000479756.1:n.970-7T>C
NM_000724.3:c.1042-7T>C (CACNB2)	NP_000715.2:n.1042-7T>C
NM_001167945.1:c.1009-7T>C (CACNB2)	NP_001161417.1:n.1009-7T>C
NM_201570.2:c.1063-7T>C (CACNB2)	NP_963864.1:n.1063-7T>C
NM_201571.3:c.1123-7T>C (CACNB2)	NP_963865.2:n.1123-7T>C
NM_201572.3:c.1051-7T>C (CACNB2)	NP_963866.2:n.1051-7T>C
NM_201590.2:c.1045-7T>C (CACNB2)	NP_963884.2:n.1045-7T>C
NM_201593.2:c.1093-7T>C (CACNB2)	NP_963887.2:n.1093-7T>C
NM_201596.2:c.1207-7T>C (CACNB2)	NP_963890.2:n.1207-7T>C
NM_201597.2:c.1135-7T>C (CACNB2)	NP_963891.1:n.1135-7T>C
XM_005252588.2:c.949-7T>C (CACNB2)	XP_005252645.1:n.949-7T>C
XM_005252591.2:c.367-7T>C (CACNB2)	XP_005252648.1:n.367-7T>C
XM_006717502.2:c.1027-7T>C (CACNB2)	XP_006717565.1:n.1027-7T>C
XM_011519659.1:c.973-7T>C (CACNB2)	XP_011517961.1:n.973-7T>C
XM_011519660.1:c.928-7T>C (CACNB2)	XP_011517962.1:n.928-7T>C
XR_930717.1:n.72+3100A>G
NM_001330060.1:c.928-7T>C (CACNB2)	NP_001316989.1:n.928-7T>C
XM_005252588.4:c.949-7T>C (CACNB2)	XP_005252645.1:n.949-7T>C
XM_005252591.3:c.367-7T>C (CACNB2)	XP_005252648.1:n.367-7T>C
XM_006717502.3:c.1027-7T>C (CACNB2)	XP_006717565.1:n.1027-7T>C
XM_011519659.2:c.973-7T>C (CACNB2)	XP_011517961.1:n.973-7T>C
XM_017016625.1:c.367-7T>C (CACNB2)	XP_016872114.1:n.367-7T>C
XR_001747060.1:n.2423+5975A>G (NSUN6)
XR_001747198.1:n.1332-7T>C (CACNB2)
NM_000724.4:c.1042-7T>C (CACNB2)	NP_000715.2:n.1042-7T>C
NM_001167945.2:c.1009-7T>C (CACNB2)	NP_001161417.1:n.1009-7T>C
NM_001330060.2:c.928-7T>C (CACNB2)	NP_001316989.1:n.928-7T>C
NM_201570.3:c.1063-7T>C (CACNB2)	NP_963864.1:n.1063-7T>C
NM_201571.4:c.1123-7T>C (CACNB2)	NP_963865.2:n.1123-7T>C
NM_201572.4:c.1051-7T>C (CACNB2)	NP_963866.2:n.1051-7T>C
NM_201590.3:c.1045-7T>C (CACNB2) MANE Plus Clinical	NP_963884.2:n.1045-7T>C
NM_201593.3:c.1093-7T>C (CACNB2)	NP_963887.2:n.1093-7T>C
NM_201596.3:c.1207-7T>C (CACNB2) MANE Select	NP_963890.2:n.1207-7T>C
NM_201597.3:c.1135-7T>C (CACNB2)	NP_963891.1:n.1135-7T>C